ClinVar for PubMed (Select 25629080) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2734437	NM_000030.3(AGXT):c.473del (p.Ser158fs)	AGXT (S158fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2704789	NM_000030.3(AGXT):c.32_33insT (p.Lys12fs)	AGXT (K12fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2101269	NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)	GRHPR	Deletion (nonsense)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 1696013	NM_138413.4(HOGA1):c.953G>A (p.Arg318His)	HOGA1 (R155H +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 554893	NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)	HOGA1 (G37V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GConflicting classifications of pathogenicity
Select item 335297	NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)	AGXT (D201N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 204287	NM_138413.4(HOGA1):c.158del (p.Asp53fs)	HOGA1 (D53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 204285	NM_138413.4(HOGA1):c.700+5G>T	HOGA1	Single nucleotide variant (intron variant)	HOGA1-related condition +2 more	GPathogenic
Select item 204269	NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)	HOGA1 (R70*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204265	NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)	HOGA1 (A36V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204243	NM_012203.2(GRHPR):c.493+2T>A	GRHPR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204239	NM_012203.2(GRHPR):c.965T>G (p.Met322Arg)	GRHPR (M322R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 204235	NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR (G165D)	Single nucleotide variant (missense variant)	GRHPR-related condition +3 more	GPathogenic
Select item 204231	NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	GRHPR (W34*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 204206	NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del)	AGXT (A296del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 204194	NM_000030.3(AGXT):c.662_664del (p.Ser221del)	AGXT (S221del)	Deletion (inframe_deletion)	Primary hyperoxaluria +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)	Primary hyperoxaluria +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 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 204170	NM_000030.3(AGXT):c.943-1G>T	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I +1 more	GLikely pathogenic
Select item 204169	NM_000030.3(AGXT):c.847-3C>G	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204167	NM_000030.3(AGXT):c.777-2A>G	AGXT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 204166	NM_000030.3(AGXT):c.596-2A>G	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204159	NM_000030.3(AGXT):c.846+1G>T	AGXT	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 204147	NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	AGXT (R360Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204143	NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	AGXT (V336D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204141	NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	AGXT (W332*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204129	NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	AGXT (E274D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204115	NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)	AGXT (D201E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 204110	NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	AGXT (C178Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT (G161S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204103	NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	AGXT (S158L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204081	NM_000030.3(AGXT):c.209C>A (p.Thr70Asn)	AGXT (T70N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 198982	NM_000030.3(AGXT):c.866G>A (p.Arg289His)	AGXT (R289H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 189021	NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	AGXT (G116R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188979	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	AGXT (S218L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188774	NM_000030.3(AGXT):c.777-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 188738	NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	AGXT (G161C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 140584	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	AGXT (S187F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +1 more	GPathogenic/Likely pathogenic
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	AGXT-related condition +4 more	GPathogenic
Select item 5648	NM_000030.3(AGXT):c.698G>A (p.Arg233His)	AGXT (R233H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5647	NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	AGXT (R233C)	Single nucleotide variant (missense variant)	not provided +1 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
Select item 29	NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)	HOGA1 (E315del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic

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Links from PubMed

Items: 45