ClinVar for MedGen (Select 340743) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234887	NM_032520.5(GNPTG):c.823_823+1insTGCT	GNPTG	Insertion (splice donor variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 3234886	NM_032520.5(GNPTG):c.819_822del (p.Thr274fs)	GNPTG (T274fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 3064995	NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter)	GNPTG (Q185*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 2580892	NM_032520.5(GNPTG):c.583del (p.Leu195fs)	GNPTG (L195fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 2444155	NM_032520.5(GNPTG):c.610-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2440579	NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)	GNPTG (Y159*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1726675	NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)	GNPTG (Y79*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1726441	NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)	GNPTG (F72fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725961	NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs)	GNPTG, LOC130058158 (V30fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725822	NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)	GNPTG (E231*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725799	NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)	GNPTG, LOC130058158 (G13fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725183	NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)	GNPTG (I200fs)	Insertion (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1724640	NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)	GNPTG (K80*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1685858	NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)	GNPTG (C245*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GPathogenic
Select item 1526169	NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer)	GNPTG	Deletion (nonsense)	GNPTG-mucolipidosis +1 more	GPathogenic
Select item 1501558	NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)	GNPTG (G60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342959	NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs)	GNPTG (F65fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1165418	NM_032520.5(GNPTG):c.318-18G>A	GNPTG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1151504	NM_032520.5(GNPTG):c.36C>T (p.Leu12=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137486	NM_032520.5(GNPTG):c.862A>C (p.Arg288=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083506	NM_032520.5(GNPTG):c.696A>G (p.Gly232=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068417	NM_032520.5(GNPTG):c.179-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1063370	NM_032520.5(GNPTG):c.327C>G (p.His109Gln)	GNPTG (H109Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062904	NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser)	GNPTG (P178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061213	NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln)	GNPTG (E275Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061018	NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu)	GNPTG (D197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058954	NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile)	GNPTG (T228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1052770	NM_032520.5(GNPTG):c.179-3C>T	GNPTG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1051218	NM_032520.5(GNPTG):c.527-8G>A	GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1045874	NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser)	GNPTG (N40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042823	NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)	GNPTG (R147W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042407	NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser)	GNPTG (T211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1041986	NM_032520.5(GNPTG):c.843dup (p.His284fs)	GNPTG (H284fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1041136	NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser)	GNPTG (N88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036156	NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp)	GNPTG, LOC130058158 (R7W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027074	NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr)	GNPTG (A160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027011	NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr)	GNPTG (A141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025920	NM_032520.5(GNPTG):c.234-6C>T	GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1006080	NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn)	GNPTG (S73N)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 1005964	NM_032520.5(GNPTG):c.276C>G (p.His92Gln)	GNPTG (H92Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 990362	NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr)	GNPTG (D125Y)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 990361	NM_032520.5(GNPTG):c.318C>T (p.Gly106=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 990360	NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile)	GNPTG (T90I)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 990359	NM_032520.5(GNPTG):c.204G>A (p.Ser68=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990358	NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu)	GNPTG (S68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990357	NM_032520.5(GNPTG):c.178+9G>C	GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990356	NM_032520.5(GNPTG):c.94G>A (p.Glu32Lys)	GNPTG, LOC130058158 (E32K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990355	NM_032520.5(GNPTG):c.84G>A (p.Lys28=)	GNPTG, LOC130058158	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989921	NM_032520.5(GNPTG):c.52+11del	GNPTG, LOC130058158	Deletion (intron variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 989920	NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser)	GNPTG, LOC130058158 (A6S)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 989919	NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)	GNPTG, LOC130058158 (G4E)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GLikely benign
Select item 989918	NM_032520.5(GNPTG):c.-4C>T	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 989917	NM_032520.5(GNPTG):c.-10C>A	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 972608	NM_032520.5(GNPTG):c.161A>T (p.Asp54Val)	GNPTG (D54V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 971493	NM_032520.5(GNPTG):c.798C>G (p.His266Gln)	GNPTG (H266Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971255	NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe)	GNPTG, LOC130058158 (L8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969981	NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu)	GNPTG (P85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967375	NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln)	GNPTG (L184Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966073	NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu)	GNPTG (I268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965433	NM_032520.5(GNPTG):c.233C>T (p.Thr78Met)	GNPTG (T78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965159	NM_032520.5(GNPTG):c.318-10G>A	GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 964872	NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala)	GNPTG (P44A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 960425	NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs)	GNPTG (A160fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 960040	NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys)	GNPTG (R258K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942779	NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys)	GNPTG (E293K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942344	NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp)	GNPTG (N99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 938074	NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr)	GNPTG (N115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917843	NM_032520.5(GNPTG):c.110+1G>C	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 917842	NM_032520.5(GNPTG):c.318-28_351del	GNPTG	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 917517	NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter)	GNPTG (K220*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GPathogenic
Select item 888365	NM_032520.5(GNPTG):c.837G>A (p.Leu279=)	GNPTG	Single nucleotide variant (synonymous variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 888364	NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg)	GNPTG (K247R)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 888038	NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn)	GNPTG (D54N)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 887094	NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg)	GNPTG (W188R)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 887093	NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu)	GNPTG (A160E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886764	NM_032520.5(GNPTG):c.52+5G>C	LOC130058158, GNPTG	Single nucleotide variant (intron variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 886763	NM_032520.5(GNPTG):c.23T>A (p.Leu8His)	LOC130058158, GNPTG (L8H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886762	NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala)	GNPTG, LOC130058158 (G4A)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 886761	NM_032520.5(GNPTG):c.-28G>A	LOC130058158, GNPTG	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 886152	NM_032520.5(GNPTG):c.*233C>T	UNKL, GNPTG	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 886151	NM_032520.5(GNPTG):c.*165A>T	UNKL, GNPTG	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 886091	NM_032520.5(GNPTG):c.297C>T (p.Asn99=)	GNPTG	Single nucleotide variant (synonymous variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 886090	NM_032520.5(GNPTG):c.234-8G>T	GNPTG	Single nucleotide variant (intron variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 885258	NM_032520.5(GNPTG):c.*62G>A	GNPTG	Single nucleotide variant (3 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 885257	NM_032520.5(GNPTG):c.*34G>A	GNPTG	Single nucleotide variant (3 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 885256	NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys)	GNPTG (E280K)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 861906	NM_032520.5(GNPTG):c.113T>C (p.Val38Ala)	GNPTG (V38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861122	NM_032520.5(GNPTG):c.53-10C>A	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 860079	NM_032520.5(GNPTG):c.32T>C (p.Leu11Pro)	GNPTG, LOC130058158 (L11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859695	NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe)	GNPTG (L49F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858463	NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys)	GNPTG (W122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856492	NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln)	GNPTG (R147Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852607	NM_032520.5(GNPTG):c.58G>A (p.Ala20Thr)	GNPTG, LOC130058158 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848175	NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg)	GNPTG (P222R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847424	NM_032520.5(GNPTG):c.411+4G>A	GNPTG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 841944	NM_032520.5(GNPTG):c.538C>G (p.Leu180Val)	GNPTG (L180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841916	NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr)	GNPTG (S56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840086	NM_032520.5(GNPTG):c.472G>A (p.Val158Ile)	GNPTG (V158I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836962	NM_032520.5(GNPTG):c.52+3G>C	GNPTG, LOC130058158	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 836381	NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys)	GNPTG (R97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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