PER2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
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 3211446	NM_022817.3(PER2):c.3742A>G (p.Asn1248Asp)	LOC126806575, PER2 (N1248D)	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 2351474	NM_022817.3(PER2):c.3698G>A (p.Ser1233Asn)	LOC126806575, PER2 (S1233N)	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 1090358	NM_022817.3(PER2):c.3619-8C>T	LOC126806575, PER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2255668	NM_022817.3(PER2):c.3616G>C (p.Ala1206Pro)	PER2 (A1206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380741	NM_022817.3(PER2):c.3449C>T (p.Thr1150Met)	PER2 (T1150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211444	NM_022817.3(PER2):c.3420G>T (p.Met1140Ile)	PER2 (M1140I)	Single nucleotide variant (missense variant)	not specified	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 2212180	NM_022817.3(PER2):c.3374A>G (p.Glu1125Gly)	PER2 (E1125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519125	NM_022817.3(PER2):c.3363G>A (p.Met1121Ile)	PER2 (M1121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631308	NM_022817.3(PER2):c.3275-1G>A	PER2	Single nucleotide variant (splice acceptor variant)	PER2-related disorder	GUncertain significance
Select item 376949	NM_022817.3(PER2):c.3250T>C (p.Cys1084Arg)	PER2 (C1084R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3049516	NM_022817.3(PER2):c.3012T>C (p.Thr1004=)	PER2	Single nucleotide variant (synonymous variant)	PER2-related disorder	GLikely benign
Select item 3211443	NM_022817.3(PER2):c.3002A>G (p.Glu1001Gly)	PER2 (E1001G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211442	NM_022817.3(PER2):c.2996C>T (p.Ala999Val)	PER2 (A999V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3055231	NM_022817.3(PER2):c.2910_2936del (p.Ser971_Pro979del)	PER2	Deletion (inframe deletion)	PER2-related disorder	GLikely benign
Select item 2537925	NM_022817.3(PER2):c.2920G>A (p.Gly974Ser)	PER2 (G974S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255715	NM_022817.3(PER2):c.2888C>T (p.Pro963Leu)	PER2 (P963L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621951	NM_022817.3(PER2):c.2884T>C (p.Cys962Arg)	PER2 (C962R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544919	NM_022817.3(PER2):c.2861C>T (p.Ser954Leu)	PER2 (S954L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735943	NM_022817.3(PER2):c.2859C>T (p.Thr953=)	PER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038758	NM_022817.3(PER2):c.2846T>A (p.Phe949Tyr)	PER2 (F949Y)	Single nucleotide variant (missense variant)	PER2-related disorder	GLikely benign
Select item 3211441	NM_022817.3(PER2):c.2845T>C (p.Phe949Leu)	PER2 (F949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456220	NM_022817.3(PER2):c.2823G>A (p.Met941Ile)	PER2 (M941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220065	NM_022817.3(PER2):c.2818G>A (p.Glu940Lys)	PER2 (E940K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275486	NM_022817.3(PER2):c.2804C>T (p.Pro935Leu)	PER2 (P935L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211440	NM_022817.3(PER2):c.2771T>C (p.Phe924Ser)	PER2 (F924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211439	NM_022817.3(PER2):c.2770T>G (p.Phe924Val)	PER2 (F924V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318350	NM_022817.3(PER2):c.2721G>A (p.Met907Ile)	PER2 (M907I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211438	NM_022817.3(PER2):c.2683C>T (p.Pro895Ser)	PER2 (P895S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354134	NM_022817.3(PER2):c.2593G>A (p.Val865Met)	PER2 (V865M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769600	NM_022817.3(PER2):c.2582C>T (p.Ala861Val)	PER2 (A861V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3045417	NM_022817.3(PER2):c.2530G>T (p.Val844Leu)	PER2 (V844L)	Single nucleotide variant (missense variant)	PER2-related disorder	GLikely benign
Select item 787008	NM_022817.3(PER2):c.2466G>A (p.Pro822=)	PER2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048495	NM_022817.3(PER2):c.2448C>T (p.Pro816=)	PER2	Single nucleotide variant (synonymous variant)	PER2-related 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 3211437	NM_022817.3(PER2):c.2323G>A (p.Ala775Thr)	PER2 (A775T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652063	NM_022817.3(PER2):c.2318G>A (p.Arg773Gln)	PER2 (R773Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 746631	NM_022817.3(PER2):c.2304G>C (p.Gly768=)	PER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363280	NM_022817.3(PER2):c.2248A>C (p.Lys750Gln)	PER2 (K750Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770136	NM_022817.3(PER2):c.2185G>A (p.Val729Ile)	PER2 (V729I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1050009	NM_022817.3(PER2):c.2114C>T (p.Ala705Val)	PER2 (A705V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3052018	NM_022817.3(PER2):c.2085G>A (p.Ala695=)	PER2	Single nucleotide variant (synonymous variant)	PER2-related disorder	GLikely benign
Select item 2474816	NM_022817.3(PER2):c.2084C>T (p.Ala695Val)	PER2 (A695V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211435	NM_022817.3(PER2):c.2068A>G (p.Met690Val)	PER2 (M690V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464325	NM_022817.3(PER2):c.2048A>G (p.Lys683Arg)	PER2 (K683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278506	NM_022817.3(PER2):c.1995G>A (p.Ser665=)	PER2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211434	NM_022817.3(PER2):c.1993T>C (p.Ser665Pro)	PER2 (S665P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055371	NM_022817.3(PER2):c.1992G>A (p.Ala664=)	PER2	Single nucleotide variant (synonymous variant)	PER2-related disorder	GBenign
Select item 3043837	NM_022817.3(PER2):c.1991C>T (p.Ala664Val)	PER2 (A664V)	Single nucleotide variant (missense variant)	PER2-related disorder	GBenign
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
Select item 3036487	NM_022817.3(PER2):c.1974C>T (p.Gly658=)	PER2	Single nucleotide variant (synonymous variant)	PER2-related disorder	GLikely benign
Select item 2623884	NM_022817.3(PER2):c.1972G>A (p.Gly658Ser)	PER2 (G658S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1246724	NM_022817.3(PER2):c.1965A>G (p.Ala655=)	PER2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3211433	NM_022817.3(PER2):c.1911G>A (p.Pro637=)	PER2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3211432	NM_022817.3(PER2):c.1894G>A (p.Ala632Thr)	PER2 (A632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515084	NM_022817.3(PER2):c.1865G>A (p.Arg622Gln)	PER2 (R622Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746968	NM_022817.3(PER2):c.1809G>A (p.Leu603=)	PER2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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