ClinVar for MedGen (Select 1391882) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185914	NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)	DNAJC12 (K137fs)	Microsatellite (frameshift variant)	Hyperphenylalaninemia due to DNAJC12 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 870656	NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys)	DNAJC12 (W103C)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 870655	NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)	DNAJC12 (W175*)	Single nucleotide variant (nonsense)	DNAJC12-related disorder +3 more	GPathogenic
Select item 870654	NM_021800.3(DNAJC12):c.502+1G>C	DNAJC12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 870653	NM_021800.3(DNAJC12):c.298-2A>C	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 802579	NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)	DNAJC12 (H42Y)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GUncertain significance
Select item 694075	NM_021800.3(DNAJC12):c.79-2A>G	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 694074	NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter)	DNAJC12 (K63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 694073	NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	DNAJC12 (R72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 694072	NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu)	DNAJC12	Single nucleotide variant (stop lost)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 694071	NM_021800.3(DNAJC12):c.85del (p.Gln29fs)	DNAJC12 (Q29fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 636261	NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs)	DNAJC12 (G20fs)	Deletion (frameshift variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 393303	NM_021800.3(DNAJC12):c.158-2A>T	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 393302	NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro)	DNAJC12 (R72P)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 393301	NM_021800.3(DNAJC12):c.298-968_503-2603del	DNAJC12	Deletion (splice acceptor variant +1 more)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic