Related gene-specific medical variations for Gene (Select 8864) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211446	NM_022817.3(PER2):c.3742A>G (p.Asn1248Asp)	LOC126806575, PER2 (N1248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211445	NM_022817.3(PER2):c.3680T>C (p.Ile1227Thr)	LOC126806575, PER2 (I1227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037437	NM_022817.3(PER2):c.3707C>T (p.Ser1236Leu)	LOC126806575, PER2 (S1236L)	Single nucleotide variant (missense variant)	PER2-related disorder	GBenign
Select item 3034370	NM_022817.3(PER2):c.3699C>T (p.Ser1233=)	LOC126806575, PER2	Single nucleotide variant (synonymous variant)	PER2-related disorder	GLikely benign
Select item 2465591	NM_022817.3(PER2):c.3748A>G (p.Arg1250Gly)	LOC126806575, PER2 (R1250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2430007	NM_022817.3(PER2):c.958G>C (p.Gly320Arg)	PER2 (G320R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430006	NM_022817.3(PER2):c.2399A>G (p.Lys800Arg)	PER2 (K800R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2351474	NM_022817.3(PER2):c.3698G>A (p.Ser1233Asn)	LOC126806575, PER2 (S1233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1090358	NM_022817.3(PER2):c.3619-8C>T	LOC126806575, PER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977454	NM_022817.3(PER2):c.1793A>G (p.Asn598Ser)	PER2 (N598S)	Single nucleotide variant (missense variant)	Sleep abnormality	GUncertain significance