8863[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 57719	GRCh38/hg38 1p36.23(chr1:7330680-7886654)x3	CAMTA1, CAMTA1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2350209	NM_001377275.1(PER3):c.35G>T (p.Arg12Leu)	PER3 (R12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041411	NM_001377275.1(PER3):c.52G>T (p.Ala18Ser)	PER3 (A18S)	Single nucleotide variant (missense variant +1 more)	PER3-related disorder	GLikely benign
Select item 2530523	NM_001377275.1(PER3):c.93C>A (p.Phe31Leu)	PER3 (F31L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305813	NM_001377275.1(PER3):c.103A>G (p.Arg35Gly)	PER3 (R35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034361	NM_001377275.1(PER3):c.129-10dup	PER3	Duplication (intron variant)	PER3-related disorder	GLikely benign
Select item 728061	NM_001377275.1(PER3):c.129-4C>T	PER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065260	NM_001377275.1(PER3):c.171G>C (p.Met57Ile)	PER3 (M57I)	Single nucleotide variant (missense variant +1 more)	Advanced sleep phase syndrome 3	GUncertain significance
Select item 717872	NM_001377275.1(PER3):c.195C>T (p.Tyr65=)	PER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2292250	NM_001377275.1(PER3):c.198C>G (p.Phe66Leu)	PER3 (F66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314743	NM_001377275.1(PER3):c.203C>T (p.Ser68Leu)	PER3 (S68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239303	NM_001377275.1(PER3):c.232G>C (p.Asp78His)	PER3 (D78H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407380	NM_001377275.1(PER3):c.242A>G (p.Asn81Ser)	PER3 (N81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590017	NM_001377275.1(PER3):c.253C>T (p.Arg85Cys)	PER3 (R85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035114	NM_001377275.1(PER3):c.275-9G>A	PER3	Single nucleotide variant (intron variant)	PER3-related disorder	GLikely benign
Select item 3211456	NM_001377275.1(PER3):c.361A>G (p.Ile121Val)	PER3 (I121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513220	NM_001377275.1(PER3):c.364G>A (p.Ala122Thr)	PER3 (A122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211457	NM_001377275.1(PER3):c.439A>G (p.Ile147Val)	PER3 (I147V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605613	NM_001377275.1(PER3):c.455C>T (p.Ala152Val)	PER3 (A152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252710	NM_001377275.1(PER3):c.470G>A (p.Arg157His)	PER3 (R157H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211458	NM_001377275.1(PER3):c.488C>T (p.Ala163Val)	PER3 (A163V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038806	NM_001377275.1(PER3):c.489G>A (p.Ala163=)	PER3	Single nucleotide variant (synonymous variant +1 more)	PER3-related disorder	GLikely benign
Select item 3305811	NM_001377275.1(PER3):c.539A>G (p.Tyr180Cys)	PER3 (Y180C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305807	NM_001377275.1(PER3):c.541G>A (p.Ala181Thr)	PER3 (A181T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211459	NM_001377275.1(PER3):c.542C>T (p.Ala181Val)	PER3 (A181V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238006	NM_001377275.1(PER3):c.605A>C (p.Tyr202Ser)	PER3 (Y201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211460	NM_001377275.1(PER3):c.620T>G (p.Val207Gly)	PER3 (V207G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211461	NM_001377275.1(PER3):c.682C>G (p.Pro228Ala)	PER3 (P227A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460980	NM_001377275.1(PER3):c.697C>G (p.Pro233Ala)	PER3 (P232A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623670	NM_001377275.1(PER3):c.749_753del (p.Pro250fs)	PER3 (P249fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2284008	NM_001377275.1(PER3):c.757C>G (p.Leu253Val)	PER3 (L252V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488158	NM_001377275.1(PER3):c.796C>T (p.Pro266Ser)	PER3 (P265S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211462	NM_001377275.1(PER3):c.806C>T (p.Pro269Leu)	PER3 (P269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546786	NM_001377275.1(PER3):c.899C>T (p.Pro300Leu)	PER3 (P300L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042943	NM_001377275.1(PER3):c.918A>G (p.Thr306=)	PER3	Single nucleotide variant (synonymous variant +1 more)	PER3-related disorder	GLikely benign
Select item 2320357	NM_001377275.1(PER3):c.1051A>G (p.Ile351Val)	PER3 (I351V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211449	NM_001377275.1(PER3):c.1120C>T (p.Arg374Trp)	PER3 (R373W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324677	NM_001377275.1(PER3):c.1153G>A (p.Asp385Asn)	PER3 (D385N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305810	NM_001377275.1(PER3):c.1232T>C (p.Leu411Pro)	PER3 (L410P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242410	NM_001377275.1(PER3):c.1243C>G (p.Pro415Ala)	PER3 (P415A +2 more)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 224889	NM_001289862.1(PER3):c.[1243C>G;1250A>G]	PER3 (P415A +5 more)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 3	GPathogenic
Select item 242411	NM_001377275.1(PER3):c.1250A>G (p.His417Arg)	PER3 (H417R +2 more)	Single nucleotide variant (missense variant)	Advanced sleep phase syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 783921	NM_001377275.1(PER3):c.1258G>A (p.Val420Met)	PER3 (V420M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3305815	NM_001377275.1(PER3):c.1278C>A (p.Ser426Arg)	PER3 (S107R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348130	NM_001377275.1(PER3):c.1318G>A (p.Ala440Thr)	PER3 (A440T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623993	NM_001377275.1(PER3):c.1358C>T (p.Thr453Met)	PER3 (T134M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398051	NM_001377275.1(PER3):c.1391A>G (p.Tyr464Cys)	PER3 (Y145C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638143	NM_001377275.1(PER3):c.1437T>C (p.Ile479=)	PER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245916	NM_001377275.1(PER3):c.1444A>G (p.Met482Val)	PER3 (M482V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204830	NM_001377275.1(PER3):c.1457C>T (p.Ser486Leu)	PER3 (S486L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607641	NM_001377275.1(PER3):c.1463A>C (p.Lys488Thr)	PER3 (K169T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342338	NM_001377275.1(PER3):c.1481G>A (p.Arg494His)	PER3 (R493H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2746132	NM_001377275.1(PER3):c.1512_1522+10del	PER3	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 2482013	NM_001377275.1(PER3):c.1493A>G (p.Asn498Ser)	PER3 (N497S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793011	NM_001377275.1(PER3):c.1511C>T (p.Ala504Val)	PER3 (A185V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2318127	NM_001377275.1(PER3):c.1574T>C (p.Val525Ala)	PER3 (V525A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774785	NM_001377275.1(PER3):c.1579A>G (p.Thr527Ala)	PER3 (T527A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617019	NM_001377275.1(PER3):c.1594G>T (p.Asp532Tyr)	PER3 (D213Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758835	NM_001377275.1(PER3):c.1629A>G (p.Gln543=)	PER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359547	NM_001377275.1(PER3):c.1715A>C (p.Asn572Thr)	PER3 (N565T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607188	NM_001377275.1(PER3):c.1720A>G (p.Thr574Ala)	PER3 (T566A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780747	NM_001377275.1(PER3):c.1842A>T (p.Ile614=)	PER3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3057990	NM_001377275.1(PER3):c.1878G>A (p.Thr626=)	PER3	Single nucleotide variant (synonymous variant)	PER3-related disorder	GLikely benign
Select item 3059771	NM_001377275.1(PER3):c.1940T>G (p.Val647Gly)	PER3 (V328G +3 more)	Single nucleotide variant (missense variant)	PER3-related disorder	GLikely benign
Select item 1098359	NM_001377275.1(PER3):c.1998dup (p.Met667fs)	PER3 (M348fs +3 more)	Duplication (frameshift variant)	See cases	GLikely pathogenic
Select item 3211450	NM_001377275.1(PER3):c.2038G>A (p.Val680Met)	LOC126805604, PER3 (V673M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268712	NM_001377275.1(PER3):c.2123C>T (p.Ser708Leu)	LOC126805604, PER3 (S389L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747223	NM_001377275.1(PER3):c.2168C>T (p.Ala723Val)	LOC126805604, PER3 (A716V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2411805	NM_001377275.1(PER3):c.2228G>A (p.Arg743Lys)	LOC126805604, PER3 (R424K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263245	NM_001377275.1(PER3):c.2234G>A (p.Gly745Glu)	LOC126805604, PER3 (G426E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780748	NM_001377275.1(PER3):c.2245C>T (p.Arg749Trp)	LOC126805604, PER3 (R741W +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2272535	NM_001377275.1(PER3):c.2252A>G (p.Lys751Arg)	LOC126805604, PER3 (K744R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060684	NM_001377275.1(PER3):c.2259G>A (p.Pro753=)	LOC126805604, PER3	Single nucleotide variant (synonymous variant)	PER3-related disorder	GBenign
Select item 779061	NM_001377275.1(PER3):c.2273G>A (p.Ser758Asn)	LOC126805604, PER3 (S751N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2272536	NM_001377275.1(PER3):c.2278A>G (p.Ser760Gly)	LOC126805604, PER3 (S760G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613168	NM_001377275.1(PER3):c.2291G>T (p.Gly764Val)	LOC126805604, PER3 (G445V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753405	NM_001377275.1(PER3):c.2299C>T (p.Pro767Ser)	LOC126805604, PER3 (P759S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474817	NM_001377275.1(PER3):c.2312C>T (p.Ala771Val)	LOC126805604, PER3 (A763V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244472	NM_001377275.1(PER3):c.2315A>G (p.His772Arg)	LOC126805604, PER3 (H453R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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