ClinVar for MedGen (Select 347006) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 157

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695903	NM_152722.5(HEPACAM):c.133G>A (p.Gly45Ser)	HEPACAM (G45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455282	NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	MLC1 (P260L +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 1449030	NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	LOC125446261, MLC1 (C6W +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 1331500	NM_015166.4(MLC1):c.251G>A (p.Arg84His)	LOC125446261, MLC1 (R5H +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 1297852	NM_015166.4(MLC1):c.895-259G>A	MLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249353	NM_015166.4(MLC1):c.895-261A>G	MLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240874	NM_015166.4(MLC1):c.-59-17T>C	MLC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1162193	NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	LOC125446261, MLC1 (L4F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely pathogenic
Select item 1082536	NM_015166.4(MLC1):c.648C>A (p.Ala216=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1080987	NM_015166.4(MLC1):c.1071C>T (p.Ser357=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1067995	NM_015166.4(MLC1):c.423+1G>T	MLC1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 990764	NM_015166.4(MLC1):c.59G>A (p.Arg20Gln)	MLC1 (R20Q)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990763	NM_015166.4(MLC1):c.198G>A (p.Ser66=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990762	NM_015166.4(MLC1):c.532A>G (p.Met178Val)	MLC1 (M126V +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990761	NM_015166.4(MLC1):c.991G>T (p.Val331Phe)	MLC1 (V252F +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990760	NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys)	MLC1 (E282K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 880338	NM_152722.5(HEPACAM):c.235G>A (p.Val79Met)	HEPACAM (V79M)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 880244	NM_152722.5(HEPACAM):c.*1479T>C	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 880243	NM_152722.5(HEPACAM):c.*1634A>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 880242	NM_152722.5(HEPACAM):c.*1852C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879129	NM_152722.5(HEPACAM):c.469G>A (p.Val157Met)	HEPACAM (V157M)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879128	NM_152722.5(HEPACAM):c.573G>C (p.Ser191=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879075	NM_152722.5(HEPACAM):c.*342G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879074	NM_152722.5(HEPACAM):c.*458T>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GUncertain significance
Select item 879073	NM_152722.5(HEPACAM):c.*459T>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GUncertain significance
Select item 878537	NM_152722.5(HEPACAM):c.702C>T (p.Thr234=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 878536	NM_152722.5(HEPACAM):c.709+12C>T	HEPACAM	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 878499	NM_152722.5(HEPACAM):c.*666G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878498	NM_152722.5(HEPACAM):c.*709C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878497	NM_152722.5(HEPACAM):c.*727G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878496	NM_152722.5(HEPACAM):c.*831G>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 877517	NM_152722.5(HEPACAM):c.975G>A (p.Pro325=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign/Likely benign
Select item 877516	NM_152722.5(HEPACAM):c.1060C>T (p.Pro354Ser)	HEPACAM (P354S)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 877515	NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 877472	NM_152722.5(HEPACAM):c.*1024G>C	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 877471	NM_152722.5(HEPACAM):c.*1235G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 843939	NM_015166.4(MLC1):c.701G>A (p.Trp234Ter)	MLC1 (W182* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 799348	NM_015166.4(MLC1):c.693G>A (p.Thr231=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 795307	NM_015166.4(MLC1):c.222C>T (p.Asn74=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 795304	NM_015166.4(MLC1):c.1026C>G (p.Thr342=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 792483	NM_015166.4(MLC1):c.882G>A (p.Pro294=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 776677	NM_152722.5(HEPACAM):c.234C>T (p.Thr78=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 770015	NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)	MLC1	Insertion (inframe_insertion +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign/Likely benign
Select item 766355	NM_015166.4(MLC1):c.1086C>T (p.Phe362=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 765169	NM_015166.4(MLC1):c.477G>A (p.Thr159=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 762834	NM_015166.4(MLC1):c.486C>T (p.Ile162=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 760967	NM_015166.4(MLC1):c.1110C>T (p.Ala370=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755314	NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser)	MLC1 (G293S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 752338	NM_015166.4(MLC1):c.120G>A (p.Ser40=)	MLC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 743148	NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)	MLC1 (A103T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 737623	NM_152722.5(HEPACAM):c.636C>T (p.Asp212=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733946	NM_152722.5(HEPACAM):c.428-8C>T	HEPACAM	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 729003	NM_015166.4(MLC1):c.601G>A (p.Val201Ile)	MLC1 (V149I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727189	NM_015166.4(MLC1):c.76G>A (p.Ala26Thr)	MLC1 (A26T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 660628	NM_015166.4(MLC1):c.299_423+108del	MLC1	Deletion (splice acceptor variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555907	NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	MLC1 (A32V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553381	NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	MLC1 (G212R +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GLikely pathogenic
Select item 550928	NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	MLC1 (V210I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 548493	NM_015166.4(MLC1):c.177+1G>T	MLC1	Single nucleotide variant (splice donor variant +1 more)	Abnormality of the nervous system +3 more	GConflicting classifications of pathogenicity
Select item 548492	NM_015166.4(MLC1):c.404T>C (p.Leu135Pro)	MLC1 (L135P +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 522820	NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn)	HEPACAM (D198N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 370785	NM_015166.4(MLC1):c.136del (p.Cys46fs)	MLC1 (C46fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370408	NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)	MLC1 (Q325* +5 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 342119	NM_015166.3(MLC1):c.-528dup	MLC1	Duplication (5 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 342114	NM_015166.3(MLC1):c.-207_-205dup	MLC1	Duplication (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 342108	NM_015166.4(MLC1):c.279G>A (p.Ser93=)	MLC1	Single nucleotide variant (synonymous variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign/Likely benign
Select item 342106	NM_015166.4(MLC1):c.627C>T (p.Ala209=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 342105	NM_015166.4(MLC1):c.715-5C>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GConflicting classifications of pathogenicity
Select item 342104	NM_015166.4(MLC1):c.772-13G>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 342103	NM_015166.4(MLC1):c.1032C>T (p.Asn344=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 342100	NM_015166.4(MLC1):c.377_378insGGGGGTC	MLC1	Insertion (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 342082	NM_015166.4(MLC1):c.*1368dup	MLC1	Duplication (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 342074	NM_015166.4(MLC1):c.*1981dup	MLC1	Duplication (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 303343	NM_152722.4(HEPACAM):c.-82T>C	HEPACAM	Single nucleotide variant	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign/Likely benign
Select item 303342	NM_152722.4(HEPACAM):c.-67G>T	HEPACAM	Single nucleotide variant	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 303341	NM_152722.5(HEPACAM):c.-28G>A	HEPACAM	Single nucleotide variant (5 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 303340	NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr)	HEPACAM (R3T)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign/Likely benign
Select item 303339	NM_152722.5(HEPACAM):c.15G>T (p.Arg5Ser)	HEPACAM (R5S)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303338	NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu)	HEPACAM (D29E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303337	NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly)	HEPACAM (R73G)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303336	NM_152722.5(HEPACAM):c.254C>T (p.Thr85Ile)	HEPACAM (T85I)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GUncertain significance
Select item 303335	NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 303334	NM_152722.5(HEPACAM):c.288A>C (p.Arg96=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign/Likely benign
Select item 303333	NM_152722.5(HEPACAM):c.291C>G (p.Asp97Glu)	HEPACAM (D97E)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303332	NM_152722.5(HEPACAM):c.472C>T (p.Leu158=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 303331	NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GConflicting classifications of pathogenicity
Select item 303330	NM_152722.5(HEPACAM):c.740C>T (p.Thr247Ile)	HEPACAM (T247I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 303329	NM_152722.5(HEPACAM):c.803+6G>A	HEPACAM	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 303328	NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg)	HEPACAM (Q284R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 303327	NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)	HEPACAM (R288C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 303326	NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser)	HEPACAM (P291S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303325	NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)	HEPACAM (A358T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303324	NM_152722.5(HEPACAM):c.*83G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303323	NM_152722.5(HEPACAM):c.*88G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303322	NM_152722.5(HEPACAM):c.*105G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303321	NM_152722.5(HEPACAM):c.*112G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 303320	NM_152722.5(HEPACAM):c.*112G>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303319	NM_152722.5(HEPACAM):c.*112G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign
Select item 303318	NM_152722.5(HEPACAM):c.*116G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303317	NM_152722.5(HEPACAM):c.*116dup	HEPACAM	Duplication (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance

<< First< Prev

Page of 2