ClinVar for MedGen (Select 45282) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523536	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2 (K172E)	Single nucleotide variant (missense variant)	Pain +10 more	GUncertain significance
Select item 523416	NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter)	PTPRQ (R2159*)	Single nucleotide variant (nonsense)	Pain +7 more	GPathogenic
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Cataract +12 more	GLikely pathogenic
Select item 374173	NM_000166.6(GJB1):c.109G>T (p.Val37Leu)	GJB1 (V37L)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 374146	NM_000274.4(OAT):c.875A>G (p.Lys292Arg)	OAT (K292R +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency +4 more	GLikely pathogenic
Select item 373945	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SCN4A (V445L)	Single nucleotide variant (missense variant)	Muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +6 more	GUncertain significance
Select item 373919	NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)	SELENON (R161Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +5 more	GUncertain significance
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the male genitalia +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor