ClinVar for MedGen (Select 813657) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434650	NM_022817.3(PER2):c.293+1G>T	PER2	Single nucleotide variant (splice donor variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 2434649	NM_022817.3(PER2):c.3376C>T (p.His1126Tyr)	PER2 (H1126Y)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 2434647	NM_022817.3(PER2):c.2542G>A (p.Ala848Thr)	PER2 (A848T)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 2434646	NM_022817.3(PER2):c.1202G>A (p.Arg401His)	PER2 (R401H)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 2434645	NM_022817.3(PER2):c.14C>G (p.Ala5Gly)	PER2 (A5G)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 634825	NM_022817.3(PER2):c.595del (p.Leu199fs)	PER2 (L199fs)	Deletion (frameshift variant)	Advanced sleep phase syndrome 1	GPathogenic
Select item 634824	NM_022817.3(PER2):c.2963C>T (p.Pro988Leu)	PER2 (P988L)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GUncertain significance
Select item 6345	NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)	PER2 (S662G)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 1	GPathogenic

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