ClinVar for MedGen (Select 2980) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068610	NM_021629.4(GNB4):c.232A>C (p.Lys78Gln)	GNB4 (K78Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2663910	NM_001357.5(DHX9):c.710dup (p.Leu237fs)	DHX9 (L237fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 1751820	NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)	SLC12A6 (W347R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 1682248	NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	AARS1 (D394Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1206276	NM_001939.3(DRP2):c.1454+5G>A	DRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1199179	NM_006158.5(NEFL):c.638T>C (p.Ile213Thr)	NEFL (I213T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1168253	NM_000166.6(GJB1):c.442G>A (p.Val148Ile)	GJB1 (V148I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GBenign
Select item 1159974	NM_000166.6(GJB1):c.282C>T (p.His94=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 1046999	NM_000166.6(GJB1):c.106C>G (p.Leu36Val)	GJB1 (L36V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 1016396	NM_000166.6(GJB1):c.758G>A (p.Ser253Asn)	GJB1 (S253N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1012273	NM_000371.4(TTR):c.[239C>T];[424G>A]			Amyloidosis, hereditary systemic 1	GPathogenic
Select item 1005403	NM_000530.8(MPZ):c.645G>A (p.Gln215=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 951866	NM_000166.6(GJB1):c.527C>T (p.Thr176Ile)	GJB1 (T176I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 917396	NM_006158.5(NEFL):c.507G>A (p.Glu169=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GBenign
Select item 917395	NM_006096.4(NDRG1):c.72C>T (p.Thr24=)	NDRG1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917394	NM_006096.4(NDRG1):c.756-13T>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917393	NM_006096.4(NDRG1):c.766C>T (p.Leu256=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917392	NM_006096.4(NDRG1):c.389+13G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917391	NM_006096.4(NDRG1):c.-18-2_-18-1del	NDRG1	Deletion (intron variant +1 more)	Charcot-Marie-Tooth disease type 4D +2 more	GBenign/Likely benign
Select item 917390	NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 917389	NM_006096.4(NDRG1):c.699-16C>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign/Likely benign
Select item 917388	NM_006096.4(NDRG1):c.892-11G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917387	NM_000530.8(MPZ):c.645+10A>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917386	NM_000530.8(MPZ):c.42G>A (p.Leu14=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 917385	NM_000530.8(MPZ):c.531C>T (p.Tyr177=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 917384	NM_000530.8(MPZ):c.*1C>T	MPZ (R250W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917383	NM_000530.8(MPZ):c.174C>T (p.Val58=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917382	NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)	MPZ (C50S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917381	NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)	MPZ (N116Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917380	NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)	MPZ (P70T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917379	NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)	MPZ (Y220C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917378	NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)	MPZ (K204N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917377	NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)	MPZ (L190P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917376	NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)	MPZ (W107R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917375	NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)	MFN2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917374	NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)	MFN2 (S231C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 917373	NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)	MFN2 (E268K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 917372	NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)	MFN2 (E266K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 917371	NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)	MFN2 (S53R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917370	NM_014874.4(MFN2):c.1393-8G>A	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917369	NM_014874.4(MFN2):c.262A>G (p.Ile88Val)	MFN2 (I88V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917368	NM_014874.4(MFN2):c.176-3C>T	MFN2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 917367	NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)	MFN2 (D496E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 917366	NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)	MFN2 (I253F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917365	NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)	MFN2 (K316E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917364	NM_014874.4(MFN2):c.2093A>G (p.His698Arg)	MFN2 (H698R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917363	NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)	MFN2 (L724R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917362	NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)	MED25 (G532S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917361	NM_030973.4(MED25):c.557G>A (p.Arg186Gln)	MED25 (R186Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917360	NM_030973.4(MED25):c.135-1G>A	MED25	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	Gno classifications from unflagged records
Select item 917359	NM_004990.4(MARS1):c.887+17G>C	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 917358	NM_004990.4(MARS1):c.2557-12C>G	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 917357	NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917356	NM_001005373.4(LRSAM1):c.1830+20A>G	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917355	NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917354	NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917353	NM_001005373.4(LRSAM1):c.2046+16T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917352	NM_001005373.4(LRSAM1):c.253-9C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917351	NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)	LRSAM1 (T331M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 917350	NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)	LRSAM1 (R400W +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917349	NM_001136472.2(LITAF):c.221-16C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GLikely benign
Select item 917348	NM_001136472.2(LITAF):c.377+3G>A	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GLikely benign
Select item 917347	NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)	LITAF (P67S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 917346	NM_001365951.3(KIF1B):c.1435-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917345	NM_001365951.3(KIF1B):c.608+14T>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917344	NM_001365951.3(KIF1B):c.2537+15A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917343	NM_001365951.3(KIF1B):c.252C>T (p.His84=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 917342	NM_001365951.3(KIF1B):c.5409-16C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917341	NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)	KIF1B (P607H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 917340	NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)	KIF1B (P1031S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917339	NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)	KIF1B (S603del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 917338	NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)	KIF1B (R1610W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 917337	NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)	KIF1B (I1698T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 917336	NM_001365951.3(KIF1B):c.959-16T>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917335	NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)	KIF1B (R430L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917334	NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)	KIF1B (L1732V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 917333	NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917332	NM_002180.3(IGHMBP2):c.1538-11_1538-8del	IGHMBP2, LOC126861245	Microsatellite (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GLikely benign
Select item 917331	NM_002180.3(IGHMBP2):c.*18C>T	IGHMBP2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917330	NM_002180.3(IGHMBP2):c.450-13T>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917329	NM_002180.3(IGHMBP2):c.1061-19G>A	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GLikely benign
Select item 917328	NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917327	NM_002180.3(IGHMBP2):c.548-19G>A	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GLikely benign
Select item 917326	NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)	HSPB1 (K123T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917325	NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)	HSPB1 (W51*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 917324	NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)	HSPB1 (R79W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GBenign
Select item 917323	NM_000166.6(GJB1):c.*18C>G	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917322	NM_002047.4(GARS1):c.-14A>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917321	NM_002047.4(GARS1):c.1032-14G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917320	NM_002047.4(GARS1):c.129G>T (p.Pro43=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917319	NM_002047.4(GARS1):c.282A>G (p.Ala94=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917318	NM_002047.4(GARS1):c.1809+16C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917317	NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)	GARS1 (T682P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917316	NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)	GARS1 (K423E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917315	NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)	GARS1 (T422S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917314	NM_014845.6(FIG4):c.446+32dup	FIG4	Duplication (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 917313	NM_021625.5(TRPV4):c.2349G>C (p.Val783=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917312	NM_021625.5(TRPV4):c.1152+15dup	TRPV4	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GBenign/Likely benign
Select item 917311	NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GLikely benign
Select item 917310	NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

<< First< Prev

Page of 10