"Invitae"[submitter] AND "DHFR2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2964336	NM_022072.5(NSUN3):c.1A>G (p.Met1Val)	DHFR2, LOC129937100 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001997	NM_022072.5(NSUN3):c.4C>G (p.Leu2Val)	DHFR2, LOC129937100 +1 more (L2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427600	NC_000003.11:g.(?_93772011)_(93845334_?)dup	ARL13B, DHFR2 +1 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 1457416	NC_000003.11:g.(?_93593089)_(93845334_?)del	ARL13B, DHFR2 +3 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 833008	NC_000003.12:g.(?_93973674)_(94126490_?)dup	ARL13B, DHFR2 +3 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 832017	NC_000003.12:g.(?_94035331)_(94061511_?)dup	ARL13B, DHFR2	Duplication	Joubert syndrome 8	GUncertain significance

ClinVar