ClinVar for MedGen (Select 905419) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248510	NC_000019.9:g.(?_40913793)_(40913839_?)del	PRX	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3246421	NC_000005.9:g.(?_148420959)_(148442585_?)del	SH3TC2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3246420	NC_000005.9:g.(?_148442514)_(148442585_?)del	SH3TC2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3246050	NC_000006.11:g.(?_110081434)_(110085144_?)del	FIG4	Deletion	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 3246049	NC_000006.11:g.(?_109765394)_(110053910_?)del	AK9, FIG4 +2 more	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3246048	NC_000006.11:g.(?_110087912)_(110088118_?)del	FIG4	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3245542	NC_000008.10:g.(?_134296472)_(134296554_?)del	NDRG1	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3244700	NC_000011.9:g.(?_9878231)_(9902092_?)del	SBF2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3244699	NC_000011.9:g.(?_10013942)_(10022589_?)del	SBF2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3244698	NC_000011.9:g.(?_9917470)_(9917578_?)del	SBF2	Deletion	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 3244697	NC_000011.9:g.(?_95568454)_(95657118_?)del	MTMR2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3244341	NC_000012.11:g.(?_32760871)_(32761049_?)del	FGD4	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3024001	NM_001370298.3(FGD4):c.1544-19T>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022889	NM_030962.4(SBF2):c.2610+19C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022730	NM_014845.6(FIG4):c.290-20C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022638	NM_006096.4(NDRG1):c.390-20A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022453	NM_014845.6(FIG4):c.1389-15T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022346	NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022097	NM_014845.6(FIG4):c.2136A>G (p.Pro712=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3021808	NM_014845.6(FIG4):c.67-18A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3021334	NM_014845.6(FIG4):c.1287T>A (p.Val429=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3020858	NM_006096.4(NDRG1):c.389+17A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3019999	NM_181882.3(PRX):c.3801G>C (p.Gly1267=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3019472	NM_030962.4(SBF2):c.403-11T>C	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3019471	NM_030962.4(SBF2):c.403-5del	SBF2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 3019247	NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)	SH3TC2 (E797fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3018811	NM_030962.4(SBF2):c.2934+17C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018733	NM_014845.6(FIG4):c.1290T>C (p.Leu430=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018638	NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018607	NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018370	NM_006096.4(NDRG1):c.906T>C (p.Ala302=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018157	NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)	PRX (G334fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3018054	NM_016156.6(MTMR2):c.651G>A (p.Arg217=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017957	NM_181882.3(PRX):c.1344T>C (p.Pro448=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017920	NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017855	NM_016156.6(MTMR2):c.571-12_571-11del	MTMR2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017515	NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017119	NM_014845.6(FIG4):c.1389-19T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017116	NM_024577.4(SH3TC2):c.3054-13T>C	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017015	NM_006096.4(NDRG1):c.99+10G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016524	NM_024577.4(SH3TC2):c.1002-13del	SH3TC2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 3016445	NM_030962.4(SBF2):c.2289A>G (p.Thr763=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016386	NM_014845.6(FIG4):c.1435-6C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016277	NM_006096.4(NDRG1):c.855+20G>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016223	NM_014845.6(FIG4):c.285T>A (p.Val95=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015825	NM_006096.4(NDRG1):c.450+12G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015795	NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015293	NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)	PRX (A792S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 3015207	NM_006096.4(NDRG1):c.451-7A>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3014706	NM_006096.4(NDRG1):c.756-15dup	LOC126860531, NDRG1	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3014448	NM_006096.4(NDRG1):c.755+12T>A	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3014001	NM_030962.4(SBF2):c.752+12A>G	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013906	NM_014845.6(FIG4):c.2377-6C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013781	NM_006096.4(NDRG1):c.312C>G (p.Ala104=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013750	NM_006096.4(NDRG1):c.807+13C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013610	NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013130	NM_006096.4(NDRG1):c.699-15A>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3012658	NM_024577.4(SH3TC2):c.3204+7C>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3012078	NM_030962.4(SBF2):c.4710C>G (p.Pro1570=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3011357	NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)	MTMR2 (Q13*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3010705	NM_030962.4(SBF2):c.2363+20C>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3010341	NM_006096.4(NDRG1):c.698+14G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3009912	NM_016156.6(MTMR2):c.80+17G>T	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3009518	NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3009098	NM_030962.4(SBF2):c.1758G>C (p.Gln586His)	SBF2 (Q586H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 3008287	NM_030962.4(SBF2):c.1396-8T>C	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3008137	NM_014845.6(FIG4):c.1040-18A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3008006	NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)	FIG4 (L490*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3007543	NM_016156.6(MTMR2):c.30T>C (p.Leu10=)	MTMR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3007519	NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)	NDRG1 (W109* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3006183	NM_030962.4(SBF2):c.1578T>G (p.Val526=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3006055	NM_024577.4(SH3TC2):c.151+16A>G	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3005090	NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3004948	NM_030962.4(SBF2):c.1002A>C (p.Ala334=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3003437	NM_014845.6(FIG4):c.1583+7C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3003389	NM_016156.6(MTMR2):c.81-12T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3003058	NM_030962.4(SBF2):c.564A>G (p.Leu188=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3000982	NM_014845.6(FIG4):c.1039+7G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3000360	NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)	FIG4 (W635*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2998798	NM_181882.3(PRX):c.3729G>A (p.Leu1243=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2997693	NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2997660	NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)	SBF2 (V509I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2995408	NM_181882.3(PRX):c.2241G>A (p.Leu747=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2995042	NM_014845.6(FIG4):c.1435-4T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2994106	NM_181882.3(PRX):c.888G>A (p.Glu296=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2991709	NM_030962.4(SBF2):c.3979-9C>T	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2990845	NM_016156.6(MTMR2):c.810A>G (p.Leu270=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2990365	NM_181882.3(PRX):c.320T>G (p.Leu107Arg)	PRX (L107R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2989443	NM_030962.4(SBF2):c.2610+16A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2989409	NM_016156.6(MTMR2):c.994-15T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2988836	NM_030962.4(SBF2):c.1054-13C>T	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2988060	NM_181882.3(PRX):c.1767G>A (p.Lys589=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2987853	NM_024577.4(SH3TC2):c.1136-6A>G	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2987337	NM_001370298.3(FGD4):c.675T>C (p.Cys225=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2984943	NM_006096.4(NDRG1):c.856-20C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982870	NM_181882.3(PRX):c.3264G>A (p.Glu1088=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982559	NM_016156.6(MTMR2):c.1917C>G (p.Val639=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982408	NM_030962.4(SBF2):c.3111-11A>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2981608	NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)	SH3TC2 (M945V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2981492	NM_001370298.3(FGD4):c.504-8T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign

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