ClinVar (all) for Orgtrack (Select 509248) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579754	NM_000277.3(PAH):c.199T>G (p.Ser67Ala)	PAH (S67A)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2579164	NM_004937.3(CTNS):c.916T>A (p.Phe306Ile)	CTNS (F159I +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 2069596	NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	CTNS (F202V +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 1184687	NM_004937.3(CTNS):c.970+70C>T	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1184686	NM_004937.3(CTNS):c.461+49A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GBenign
Select item 683626	NM_004937.3(CTNS):c.461+52G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 672024	NM_004937.3(CTNS):c.461+54G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 553330	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GPathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 624	NM_000277.3(PAH):c.997C>T (p.Leu333Phe)	PAH (L333F)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 612	NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	PAH (R408Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 610	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH (R261*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 607	NM_000277.3(PAH):c.1066-11G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 597	NM_000277.3(PAH):c.1092_1094del (p.Leu365del)	PAH (L365del)	Deletion (inframe_deletion)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 591	NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	PAH (R243Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 584	NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	PAH (R252W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 582	NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	PAH (R261Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database