ClinVar (all) for Orgtrack (Select 256489) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +8 more	GPathogenic/Likely pathogenic
Select item 88770	NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	LIPA (G87V)	Single nucleotide variant (missense variant +1 more)	Wolman disease +3 more	GPathogenic/Likely pathogenic
Select item 8418	NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe)	ABCC2 (I1173F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GPathogenic
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 2360	NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)	USH2A (Q81fs)	Insertion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic

ClinVar