ClinVar for MedGen (Select 8943) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627903	NM_000155.4(GALT):c.535G>C (p.Gly179Arg)	GALT (G179R +1 more)	Single nucleotide variant (missense variant)	Galactosemia	GLikely pathogenic
Select item 1705146	NM_000155.4(GALT):c.[413C>T;469G>A]	GALT (T29M +2 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1114851	NM_000155.4(GALT):c.366T>G (p.Ala122=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 991659	NM_000155.4(GALT):c.-11C>A	GALT	Single nucleotide variant (5 prime UTR variant)	Galactosemia	GUncertain significance
Select item 965103	NM_000155.4(GALT):c.253-6C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 964813	NM_000155.4(GALT):c.502_504del (p.Val168del)	GALT (V168del +1 more)	Deletion (inframe_deletion)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 933208	NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)	GALT (E243G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 933175	NM_000155.4(GALT):c.762G>A (p.Leu254=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 929185	NM_000155.4(GALT):c.904+7C>A	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 928941	NM_000155.4(GALT):c.1094A>G (p.His365Arg)	GALT (H256R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 914056	NM_000155.4(GALT):c.773G>A (p.Arg258His)	GALT (R149H +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 858291	NM_000155.4(GALT):c.550C>T (p.His184Tyr)	GALT (H184Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 813466	NM_000155.4(GALT):c.252+1G>A	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 811444	NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)	GALT (T241N +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 755139	NM_000155.4(GALT):c.1116C>T (p.Asp372=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 737443	NM_000155.4(GALT):c.480G>A (p.Glu160=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 733071	NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	GALT (S307T +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 721936	NM_000155.4(GALT):c.414G>A (p.Thr138=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 633238	NM_000155.4(GALT):c.754C>A (p.Gln252Lys)	GALT (Q252K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 633233	NM_000155.4(GALT):c.413C>G (p.Thr138Arg)	GALT (T138R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 632827	NM_000155.4(GALT):c.1128A>T (p.Ala376=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 566450	NM_000155.4(GALT):c.32G>A (p.Arg11His)	GALT (R11H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 550184	NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	GALT (R272C +1 more)	Single nucleotide variant (missense variant)	GALT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 529225	NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	GALT (R223C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 495682	NM_000155.4(GALT):c.851C>A (p.Thr284Asn)	GALT (T284N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495681	NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)	GALT	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 495680	NM_000155.4(GALT):c.715T>C (p.Trp239Arg)	GALT (W239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495677	NM_000155.4(GALT):c.377+7A>G	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495676	NM_000155.4(GALT):c.328+7T>C	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495675	NM_000155.4(GALT):c.268G>C (p.Asp90His)	GALT (D90H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 495673	NM_000155.4(GALT):c.211C>G (p.Leu71Val)	GALT, LOC130001683 (L71V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 495672	NM_000155.4(GALT):c.172G>A (p.Glu58Lys)	GALT, LOC130001683 (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 439751	NM_000155.4(GALT):c.*8G>A	GALT	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 439750	NM_000155.4(GALT):c.640G>A (p.Gly214Arg)	GALT (G105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 366699	NM_000155.4(GALT):c.688-4C>T	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 366698	NM_000155.4(GALT):c.687+9G>C	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 281074	NM_000155.4(GALT):c.510C>A (p.Ile170=)	GALT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281069	NM_000155.4(GALT):c.405G>A (p.Ser135=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 280996	NM_000155.4(GALT):c.414G>T (p.Thr138=)	GALT	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 280989	NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	GALT (R259Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203734	NM_000155.4(GALT):c.367C>T (p.Arg123Ter)	GALT (R123*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 203732	NM_000155.4(GALT):c.864C>T (p.Asn288=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 193559	NM_000155.4(GALT):c.1052del (p.Pro351fs)	GALT (P242fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189191	NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	GALT (R259W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 140570	NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92523	NM_000155.4(GALT):c.820+4A>C	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 92515	NM_000155.4(GALT):c.289_291del (p.Asn97del)	GALT (N97del)	Deletion (inframe_deletion +1 more)	GALT-related condition +2 more	GPathogenic/Likely pathogenic
Select item 39372	NM_000155.4(GALT):c.652C>T (p.Leu218=)	GALT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign; other
Select item 38553	NM_000155.4(GALT):c.879C>T (p.Ser293=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GBenign/Likely benign
Select item 38288	NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	GALT (R333Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37359	NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	GALT (R148W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 37358	NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	GALT (S143L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37357	NM_000155.4(GALT):c.394C>T (p.His132Tyr)	GALT (H132Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 36160	NM_000155.4(GALT):c.945T>C (p.His315=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 36158	NM_000155.4(GALT):c.876G>A (p.Thr292=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 36148	NM_000155.4(GALT):c.508-17G>A	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 36147	NM_000155.4(GALT):c.498T>C (p.Pro166=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 36143	NM_000155.4(GALT):c.203A>C (p.His68Pro)	GALT, LOC130001683 (H68P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25334	NM_000155.4(GALT):c.1132A>G (p.Ile378Val)	GALT (I269V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 25317	NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	GALT (E231K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25316	NM_000155.4(GALT):c.1014C>G (p.Gly338=)	GALT	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25309	NM_000155.4(GALT):c.983G>A (p.Arg328His)	GALT (R219H)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25305	NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	GALT (P325L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25299	NM_000155.4(GALT):c.961C>T (p.His321Tyr)	GALT (H212Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25298	NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	GALT (A211T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25291	NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	GALT (W316* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25269	NM_000155.4(GALT):c.820+13A>G	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25265	NM_000155.4(GALT):c.793C>G (p.Pro265Ala)	GALT (P156A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 25262	NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)	GALT	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 25252	NM_000155.4(GALT):c.747G>A (p.Trp249Ter)	GALT (W249* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 25247	NM_000155.4(GALT):c.692G>A (p.Arg231His)	GALT (R122H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25246	NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	GALT (R122C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25237	NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)	GALT	Deletion (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25232	NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	GALT (Y100S)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25231	NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	GALT (Y100C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25228	NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	GALT (R204* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25227	NM_000155.4(GALT):c.602G>A (p.Arg201His)	GALT (R92H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 25226	NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	GALT (R92C)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 25225	NM_000155.4(GALT):c.598del (p.Gln200fs)	GALT (Q91fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25222	NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	GALT (L86P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 25215	NM_000155.4(GALT):c.564+1G>A	GALT	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25213	NM_000155.4(GALT):c.554C>T (p.Pro185Leu)	GALT (P76L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 25210	NM_000155.4(GALT):c.552C>A (p.His184Gln)	GALT (H75Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25203	NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	GALT (G66D)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 25195	NM_000155.4(GALT):c.508-24G>A	GALT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 25192	NM_000155.4(GALT):c.507+62G>A	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 25189	NM_000155.4(GALT):c.502G>T (p.Val168Leu)	GALT (V59L)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25180	NM_000155.4(GALT):c.452T>C (p.Val151Ala)	GALT (V42A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25178	NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	GALT (R39Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25174	NM_000155.4(GALT):c.413C>T (p.Thr138Met)	GALT (T29M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25171	NM_000155.4(GALT):c.400del (p.Trp134fs)	GALT (W25fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 25166	NM_000155.4(GALT):c.378-27G>C	GALT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 25164	NM_000155.4(GALT):c.377+1G>T	GALT	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 25154	NM_000155.4(GALT):c.329-2A>C	GALT	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 25148	NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25145	NM_000155.4(GALT):c.285T>G (p.Phe95Leu)	GALT	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 25142	NM_000155.4(GALT):c.253-2A>G	GALT	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 25137	NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25136	NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 25122	NM_000155.4(GALT):c.91C>A (p.His31Asn)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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