ClinVar for MedGen (Select 371304) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444024	NM_006096.4(NDRG1):c.698G>A (p.Ser233Asn)	NDRG1 (S152N +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 2432078	NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter)	NDRG1 (Q21* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4D	GLikely pathogenic
Select item 1705646	NM_006096.4(NDRG1):c.390-2A>G	NDRG1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4D	GLikely pathogenic
Select item 1339167	NM_006096.4(NDRG1):c.943+5G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +1 more	GUncertain significance
Select item 1323335	NM_006096.4(NDRG1):c.327-1G>A	NDRG1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4D	GPathogenic
Select item 1210121	NM_006096.4(NDRG1):c.537+2_537+10del	NDRG1	Deletion (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 4D	GPathogenic
Select item 1185231	NM_006096.4(NDRG1):c.327-33C>T	NDRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1048598	NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter)	NDRG1 (Y13* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4D	GPathogenic
Select item 1045762	NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg)	NDRG1 (P235R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1033071	NM_006096.4(NDRG1):c.537+18C>T	NDRG1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1018853	NM_006096.4(NDRG1):c.538-5T>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1006402	NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)	LOC126860531, NDRG1 (P163L +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1000009	NM_006096.4(NDRG1):c.410T>C (p.Met137Thr)	NDRG1 (M137T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 994386	NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe)	NDRG1 (L114F +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 990140	NM_006096.4(NDRG1):c.591G>A (p.Gly197=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 968722	NM_006096.4(NDRG1):c.699-3C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 968389	NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)	NDRG1 (Y62C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 967895	NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)	NDRG1 (R3W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967473	NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)	NDRG1 (G386R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 966637	NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)	NDRG1 (T47M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 966130	NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)	NDRG1 (R285Q +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 964887	NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)	NDRG1 (P26S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 959612	NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)	NDRG1 (K219R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 955900	NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)	NDRG1 (I59T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 944773	NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)	NDRG1 (S327del +3 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 937984	NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)	NDRG1 (R272C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 935032	NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)	LOC126860531, NDRG1 (A187S +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 934955	NM_006096.4(NDRG1):c.805G>A (p.Val269Met)	LOC126860531, NDRG1 (V203M +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 917391	NM_006096.4(NDRG1):c.-18-2_-18-1del	NDRG1	Deletion (intron variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 917389	NM_006096.4(NDRG1):c.699-16C>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +3 more	GBenign/Likely benign
Select item 917155	NM_006096.4(NDRG1):c.100-3C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 916897	NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)	NDRG1 (I163T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 911584	NM_006096.4(NDRG1):c.-99A>G	LOC130001213, NDRG1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 911519	NM_006096.4(NDRG1):c.951G>A (p.Ser317=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4D +1 more	GConflicting classifications of pathogenicity
Select item 911463	NM_006096.4(NDRG1):c.*791C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 911462	NM_006096.4(NDRG1):c.*854G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 911264	NM_006096.4(NDRG1):c.*1179G>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 910371	NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)	NDRG1 (S2A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 910370	NM_006096.4(NDRG1):c.270C>T (p.Ala90=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 910309	NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)	NDRG1 (V253I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 910308	NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4D +1 more	GConflicting classifications of pathogenicity
Select item 910307	NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)	NDRG1 (R282C +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 909421	NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)	NDRG1 (A27T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 909420	NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)	NDRG1 (F48L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 909343	NM_006096.4(NDRG1):c.*31T>G	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909342	NM_006096.4(NDRG1):c.*48C>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909341	NM_006096.4(NDRG1):c.*91G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909340	NM_006096.4(NDRG1):c.*228G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909271	NM_006096.4(NDRG1):c.*1299C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909270	NM_006096.4(NDRG1):c.*1300G>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909269	NM_006096.4(NDRG1):c.*1339C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909268	NM_006096.4(NDRG1):c.*1361C>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909267	NM_006096.4(NDRG1):c.*1621C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908630	NM_006096.3(NDRG1):c.-166A>C	LOC130001213, NDRG1	Single nucleotide variant	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908559	NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)	NDRG1 (R131C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 908492	NM_006096.4(NDRG1):c.*308C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908491	NM_006096.4(NDRG1):c.*377G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GLikely benign
Select item 908490	NM_006096.4(NDRG1):c.*392G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908489	NM_006096.4(NDRG1):c.*403G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908488	NM_006096.4(NDRG1):c.*525G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 858802	NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)	NDRG1 (I134V +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 850754	NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)	NDRG1 (N152K +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 845813	NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 837836	NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)	NDRG1 (Y7H +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 810317	NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2])	NDRG1	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 800890	NM_006096.4(NDRG1):c.944-1G>T	NDRG1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 759093	NM_006096.4(NDRG1):c.855+8G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 704918	NM_006096.4(NDRG1):c.594+10G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 701168	NM_006096.4(NDRG1):c.804C>T (p.Ala268=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 700324	NM_006096.4(NDRG1):c.594+9C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 700182	NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)	NDRG1 (I135V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 700069	NM_006096.4(NDRG1):c.987C>T (p.Ala329=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 699278	NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 697254	NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)	NDRG1 (A69S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 695697	NM_006096.4(NDRG1):c.528C>T (p.Ala176=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 689598	NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)	NDRG1 (L211I +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 673449	NM_006096.4(NDRG1):c.891+39C>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +1 more	GBenign
Select item 673448	NM_006096.4(NDRG1):c.699-51A>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +1 more	GBenign
Select item 673388	NM_006096.4(NDRG1):c.698+84A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +1 more	GBenign
Select item 672421	NM_006096.4(NDRG1):c.389+82G>T	NDRG1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 671034	NM_006096.4(NDRG1):c.327-48C>G	NDRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670539	NM_006096.4(NDRG1):c.450+61A>G	NDRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 667649	NM_006096.4(NDRG1):c.855+148T>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4D +1 more	GBenign
Select item 667643	NM_006096.4(NDRG1):c.538-132G>C	NDRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 664019	NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln)	NDRG1 (R56Q)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 662061	NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp)	NDRG1 (G283D +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 656777	NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu)	NDRG1 (S298L +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 655683	NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)	NDRG1 (A385T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 649845	NM_006096.4(NDRG1):c.426C>T (p.Gly142=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 649538	NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg)	NDRG1 (K53R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 649176	NM_006096.4(NDRG1):c.582C>G (p.His194Gln)	NDRG1 (H128Q +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 639524	NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])	NDRG1	Deletion (inframe_deletion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 578569	NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn)	NDRG1 (S319N +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 573026	NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu)	NDRG1 (S317L +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 572374	NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp)	NDRG1 (R56W)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 568538	NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu)	NDRG1 (P188L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566768	NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp)	NDRG1 (A104D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 543444	NM_006096.4(NDRG1):c.528C>G (p.Ala176=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4D +2 more	GConflicting classifications of pathogenicity
Select item 543436	NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn)	NDRG1 (T71N +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 543429	NM_006096.4(NDRG1):c.613G>A (p.Val205Met)	NDRG1 (V205M +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance

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