ClinVar for MedGen (Select 5697) - ClinVar

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

Links from MedGen

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336473	NM_000030.3(AGXT):c.245G>C (p.Gly82Ala)	AGXT (G82A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria	GLikely pathogenic
Select item 2577088	NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)	AGXT (G190R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria	GPathogenic
Select item 2503875	NM_000030.3(AGXT):c.165+1G>T	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria	GLikely pathogenic
Select item 870592	NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)	MOCOS (Y211*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria	GUncertain significance
Select item 633034	NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	AGXT (G362S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GConflicting classifications of pathogenicity
Select item 560991	NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	DOK7 (G161R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 335291	NM_000030.2(AGXT):c.-46G>A	AGXT	Single nucleotide variant	Primary hyperoxaluria +1 more	GBenign/Likely benign
Select item 301814	NM_138413.4(HOGA1):c.*381AG[1]	HOGA1	Microsatellite (3 prime UTR variant)	Primary hyperoxaluria	GUncertain significance
Select item 301812	NM_138413.4(HOGA1):c.*359dup	HOGA1	Duplication (3 prime UTR variant)	Primary hyperoxaluria	GUncertain significance
Select item 301811	NM_138413.4(HOGA1):c.*354dup	HOGA1	Duplication (3 prime UTR variant)	Primary hyperoxaluria +1 more	GUncertain significance
Select item 301809	NM_138413.4(HOGA1):c.353_354dup	HOGA1	Duplication (3 prime UTR variant)	Primary hyperoxaluria	GUncertain significance
Select item 301808	NM_138413.4(HOGA1):c.*350dup	HOGA1	Duplication (3 prime UTR variant)	Primary hyperoxaluria	GUncertain significance
Select item 301802	NM_138413.4(HOGA1):c.*204T>A	HOGA1	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria	GUncertain significance
Select item 301794	NM_138413.4(HOGA1):c.701-11_701-8dup	HOGA1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 204235	NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR (G165D)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 204201	NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)	AGXT (S275fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 204194	NM_000030.3(AGXT):c.662_664del (p.Ser221del)	AGXT (S221del)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204192	NM_000030.3(AGXT):c.577dup (p.Leu193fs)	AGXT (L193fs)	Duplication (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204191	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT (L193fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204190	NM_000030.3(AGXT):c.570del (p.Thr191fs)	AGXT (T191fs)	Deletion (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204185	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT (L151fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 204176	NM_000030.3(AGXT):c.126del (p.Leu43fs)	AGXT (L43fs)	Deletion (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204168	NM_000030.3(AGXT):c.847-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria +1 more	GPathogenic/Likely pathogenic
Select item 204159	NM_000030.3(AGXT):c.846+1G>T	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204154	NM_000030.3(AGXT):c.680+1G>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria +1 more	GPathogenic/Likely pathogenic
Select item 204130	NM_000030.3(AGXT):c.823A>C (p.Ser275Arg)	AGXT (S275R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +1 more	GLikely pathogenic
Select item 204118	NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)	AGXT (S205L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 204109	NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)	AGXT (C173*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria	GPathogenic
Select item 204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT (G161S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 204093	NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	AGXT (A112D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204091	NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	AGXT (R111*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204083	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT (S81L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +3 more	GPathogenic/Likely pathogenic
Select item 204079	NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)	AGXT (G63R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria	GPathogenic
Select item 204077	NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	AGXT (I56N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 204040	NM_000030.3(AGXT):c.489G>A (p.Leu163=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 189161	NM_000030.3(AGXT):c.976del (p.Val326fs)	AGXT (V326fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT (G350D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT (K12fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +3 more	GPathogenic/Likely pathogenic
Select item 188774	NM_000030.3(AGXT):c.777-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 162020	NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	GRHPR (V289fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type II +2 more	GPathogenic
Select item 140584	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	AGXT (S187F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	Alanine glyoxylate aminotransferase deficiency +4 more	GPathogenic
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5650	NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)	AGXT (G156R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic
Select item 5645	NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)	AGXT (F152I)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 5643	NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	AGXT (G82E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 5637	NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)	GRHPR (R99*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II +2 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 51