"Clinical Biochemistry Laboratory, Health Services Laboratory"[submitt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	AGXT, ANKMY1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 204215	NG_008005.1:g.(?_5001)_(11460_12190)del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 204214	NG_008005.1:g.(?_5001)_(9305_10233)del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 204172	NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)	AGXT (M1N)	Indel (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 204065	NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	AGXT (M1T)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204066	NM_000030.3(AGXT):c.3G>T (p.Met1Ile)	AGXT (M1I)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I	GPathogenic
Select item 204067	NM_000030.3(AGXT):c.22G>C (p.Val8Leu)	AGXT (V8L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681152	NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)	AGXT (V8D)	Indel (missense variant)	Primary hyperoxaluria, type I	GLikely 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 204173	NM_000030.3(AGXT):c.32_33del (p.Pro11fs)	AGXT (P11fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204016	NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)	AGXT (T9N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
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 204017	NM_000030.3(AGXT):c.27C>A (p.Thr9=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681160	NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)	AGXT (P10fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204068	NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)	AGXT (P10S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681193	NM_000030.3(AGXT):c.[32C>T;836T>C]	AGXT (P11L +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204018	NM_000030.3(AGXT):c.32C>A (p.Pro11His)	AGXT (P11H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5641	NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	AGXT (P11L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
Select item 204019	NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)	AGXT (K12R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GConflicting classifications of pathogenicity
Select item 2681174	NM_000030.3(AGXT):c.40dup (p.Leu14fs)	AGXT (L14fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681183	NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)	AGXT (L18F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204020	NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)	AGXT (N22S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 204070	NM_000030.3(AGXT):c.74T>G (p.Leu25Arg)	AGXT (L25R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204071	NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)	AGXT (L26P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681190	NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)	AGXT (G27E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 554506	NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)	AGXT (P28S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204174	NM_000030.3(AGXT):c.83del (p.Pro28fs)	AGXT (P28fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT (R36C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204072	NM_000030.3(AGXT):c.107G>A (p.Arg36His)	AGXT (R36H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 554314	NM_000030.3(AGXT):c.126dup (p.Leu43fs)	AGXT (L43fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
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 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204073	NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)	AGXT (G41E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 188985	NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	AGXT (G41V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204074	NM_000030.3(AGXT):c.125G>A (p.Gly42Glu)	AGXT (G42E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204075	NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	AGXT (Q44*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 2681194	NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204076	NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic
Select item 2681153	NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)	AGXT (G47E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 550334	NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	AGXT (M49L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204024	NM_000030.3(AGXT):c.165+19_166-48dup	AGXT	Duplication (intron variant)	not provided	GLikely benign
Select item 204021	NM_000030.3(AGXT):c.165+16A>G	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 204026	NM_000030.3(AGXT):c.165+40A>C	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 204025	NM_000030.3(AGXT):c.165+44T>A	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204022	NM_000030.3(AGXT):c.166-57C>T	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204023	NM_000030.3(AGXT):c.166-56C>T	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204027	NM_000030.3(AGXT):c.166-54C>T	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204028	NM_000030.3(AGXT):c.166-47T>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204029	NM_000030.3(AGXT):c.166-14C>T	AGXT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 204163	NM_000030.3(AGXT):c.166-1G>A	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	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 204078	NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)	AGXT (E59K)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204079	NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)	AGXT (G63R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 983726	NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	AGXT (Y66*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 5642	NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)	AGXT (Y66*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 204080	NM_000030.3(AGXT):c.205C>T (p.Gln69Ter)	AGXT (Q69*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
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 204177	NM_000030.3(AGXT):c.215dup (p.Asn72fs)	AGXT (N72fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204178	NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	AGXT (V77fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681154	NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)	AGXT (T75K)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681155	NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)	AGXT (G80fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681156	NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)	AGXT (S81W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204083	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT (S81L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204082	NM_000030.3(AGXT):c.242C>A (p.Ser81Ter)	AGXT (S81*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681157	NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)	AGXT (G82R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204084	NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)	AGXT (G82R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic
Select item 2681158	NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)	AGXT (G82fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	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 204085	NM_000030.3(AGXT):c.248A>G (p.His83Arg)	AGXT (H83R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204086	NM_000030.3(AGXT):c.254C>A (p.Ala85Asp)	AGXT (A85D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204030	NM_000030.3(AGXT):c.264C>T (p.Ala88=)	AGXT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2681159	NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)	AGXT (A89T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204179	NM_000030.3(AGXT):c.276del (p.Asn92fs)	AGXT (N92fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204180	NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)	AGXT	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 204087	NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)	AGXT (E95K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2681161	NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)	AGXT (E95D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204031	NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr)	AGXT (S99Y)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 188866	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT (L101P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204181	NM_000030.2(AGXT):c.[299_307dup;308G>A]	AGXT (G103E)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I	GPathogenic
Select item 188891	NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	AGXT (W108R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204182	NM_000030.3(AGXT):c.327del (p.Gln110fs)	AGXT (Q110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 204088	NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)	AGXT (W108*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 204089	NM_000030.3(AGXT):c.324G>T (p.Trp108Cys)	AGXT (W108C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681162	NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)	AGXT (G109E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204090	NM_000030.3(AGXT):c.326G>T (p.Gly109Val)	AGXT (G109V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
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 204092	NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	AGXT (R111Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 204093	NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	AGXT (A112D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2681163	NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)	AGXT (G116W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 189021	NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	AGXT (G116R)	Single nucleotide variant (missense variant)	Abnormality of metabolism/homeostasis +2 more	GPathogenic/Likely pathogenic
Select item 204094	NM_000030.3(AGXT):c.349G>T (p.Glu117Ter)	AGXT (E117*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 204095	NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)	AGXT (R118C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 204096	NM_000030.3(AGXT):c.353G>A (p.Arg118His)	AGXT (R118H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204151	NM_000030.3(AGXT):c.358+1G>T	AGXT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 204152	NM_000030.3(AGXT):c.358+2T>G	AGXT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 204032	NM_000030.3(AGXT):c.358+13C>T	AGXT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 204033	NM_000030.3(AGXT):c.358+56_358+64del	AGXT	Microsatellite (intron variant)	not provided	GBenign
Select item 204183	NM_000030.3(AGXT):c.359-1_382del	AGXT	Deletion (splice acceptor variant)	Primary hyperoxaluria, type I	GPathogenic

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