PEAK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2356676	NM_001385026.1(PEAK1):c.5237G>A (p.Arg1746His)	PEAK1 (R1746H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489159	NM_001385026.1(PEAK1):c.5198C>T (p.Thr1733Ile)	PEAK1 (T1733I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211275	NM_001385026.1(PEAK1):c.5194A>T (p.Thr1732Ser)	PEAK1 (T1732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311583	NM_001385026.1(PEAK1):c.5164T>G (p.Trp1722Gly)	PEAK1 (W1722G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041452	NM_001385026.1(PEAK1):c.5049C>T (p.Ser1683=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3211274	NM_001385026.1(PEAK1):c.5014G>A (p.Glu1672Lys)	PEAK1 (E1672K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383010	NM_001385026.1(PEAK1):c.4975G>A (p.Ala1659Thr)	PEAK1 (A1659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278535	NM_001385026.1(PEAK1):c.4915C>G (p.Gln1639Glu)	PEAK1 (Q1639E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454337	NM_001385026.1(PEAK1):c.4892G>T (p.Arg1631Leu)	PEAK1 (R1631L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057921	NM_001385026.1(PEAK1):c.4776G>A (p.Glu1592=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3041497	NM_001385026.1(PEAK1):c.4719C>T (p.Asp1573=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3052438	NM_001385026.1(PEAK1):c.4599C>G (p.Ala1533=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 2645589	NM_001385026.1(PEAK1):c.4551A>G (p.Leu1517=)	PEAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211273	NM_001385026.1(PEAK1):c.4450A>G (p.Lys1484Glu)	PEAK1 (K1484E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540023	NM_001385026.1(PEAK1):c.4433C>T (p.Ser1478Phe)	PEAK1 (S1478F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349836	NM_001385026.1(PEAK1):c.4429G>A (p.Asp1477Asn)	PEAK1 (D1477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475692	NM_001385026.1(PEAK1):c.4418A>G (p.Asp1473Gly)	PEAK1 (D1473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051318	NM_001385026.1(PEAK1):c.4358A>G (p.Lys1453Arg)	PEAK1 (K1453R)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 3211272	NM_001385026.1(PEAK1):c.4286C>T (p.Thr1429Met)	PEAK1 (T1429M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253767	NM_001385026.1(PEAK1):c.4276A>G (p.Lys1426Glu)	PEAK1 (K1426E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304122	NM_001385026.1(PEAK1):c.4216G>A (p.Glu1406Lys)	PEAK1 (E1406K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327516	NM_001385026.1(PEAK1):c.4201C>T (p.Arg1401Cys)	PEAK1 (R1401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461411	NM_001385026.1(PEAK1):c.4126G>A (p.Ala1376Thr)	PEAK1 (A1376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298505	NM_001385026.1(PEAK1):c.4055C>T (p.Pro1352Leu)	PEAK1 (P1352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225609	NM_001385026.1(PEAK1):c.4043A>G (p.Tyr1348Cys)	PEAK1 (Y1348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211271	NM_001385026.1(PEAK1):c.4003T>C (p.Cys1335Arg)	PEAK1 (C1335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039075	NM_001385026.1(PEAK1):c.3924T>C (p.Leu1308=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 2454770	NM_001385026.1(PEAK1):c.3922C>T (p.Leu1308Phe)	PEAK1 (L1308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545913	NM_001385026.1(PEAK1):c.3833G>A (p.Arg1278Gln)	PEAK1 (R1278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603469	NM_001385026.1(PEAK1):c.3812C>T (p.Pro1271Leu)	PEAK1 (P1271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486992	NM_001385026.1(PEAK1):c.3800G>C (p.Gly1267Ala)	PEAK1 (G1267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208226	NM_001385026.1(PEAK1):c.3770G>A (p.Arg1257Gln)	PEAK1 (R1257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045176	NM_001385026.1(PEAK1):c.3727A>G (p.Ile1243Val)	PEAK1 (I1243V)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 3044499	NM_001385026.1(PEAK1):c.3714A>G (p.Leu1238=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3043997	NM_001385026.1(PEAK1):c.3687C>T (p.Pro1229=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 3050261	NM_001385026.1(PEAK1):c.3579C>T (p.Asn1193=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GBenign
Select item 2321112	NM_001385026.1(PEAK1):c.3530A>G (p.Glu1177Gly)	PEAK1 (E1177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035720	NM_001385026.1(PEAK1):c.3498G>C (p.Glu1166Asp)	PEAK1 (E1166D)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 2560004	NM_001385026.1(PEAK1):c.3475A>G (p.Met1159Val)	PEAK1 (M1159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351657	NM_001385026.1(PEAK1):c.3413G>A (p.Gly1138Glu)	PEAK1 (G1138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371662	NM_001385026.1(PEAK1):c.3403G>A (p.Ala1135Thr)	PEAK1 (A1135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461099	NM_001385026.1(PEAK1):c.3394G>T (p.Asp1132Tyr)	PEAK1 (D1132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035156	NM_001385026.1(PEAK1):c.3331+8C>T	PEAK1	Single nucleotide variant (intron variant)	PEAK1-related disorder	GLikely benign
Select item 3047639	NM_001385026.1(PEAK1):c.3311G>A (p.Ser1104Asn)	PEAK1 (S1104N)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 2396891	NM_001385026.1(PEAK1):c.3235G>A (p.Ala1079Thr)	PEAK1 (A1079T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048507	NM_001385026.1(PEAK1):c.3229A>C (p.Thr1077Pro)	PEAK1 (T1077P)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GBenign
Select item 2259263	NM_001385026.1(PEAK1):c.3224C>T (p.Ser1075Leu)	PEAK1 (S1075L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211270	NM_001385026.1(PEAK1):c.3145A>C (p.Thr1049Pro)	PEAK1 (T1049P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236186	NM_001385026.1(PEAK1):c.3107C>T (p.Ser1036Phe)	PEAK1 (S1036F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211269	NM_001385026.1(PEAK1):c.2968A>G (p.Met990Val)	PEAK1 (M990V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309049	NM_001385026.1(PEAK1):c.2936G>T (p.Gly979Val)	PEAK1 (G979V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485094	NM_001385026.1(PEAK1):c.2930C>T (p.Ala977Val)	PEAK1 (A977V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400454	NM_001385026.1(PEAK1):c.2840G>A (p.Arg947Gln)	PEAK1 (R947Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398324	NM_001385026.1(PEAK1):c.2803C>T (p.Arg935Trp)	PEAK1 (R935W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211268	NM_001385026.1(PEAK1):c.2801G>A (p.Arg934His)	PEAK1 (R934H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211267	NM_001385026.1(PEAK1):c.2750C>T (p.Ala917Val)	PEAK1 (A917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321111	NM_001385026.1(PEAK1):c.2747G>A (p.Arg916Gln)	PEAK1 (R916Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211266	NM_001385026.1(PEAK1):c.2717A>T (p.Glu906Val)	PEAK1 (E906V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256465	NM_001385026.1(PEAK1):c.2664G>T (p.Arg888Ser)	PEAK1 (R888S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050598	NM_001385026.1(PEAK1):c.2631T>C (p.Ser877=)	PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 2620560	NM_001385026.1(PEAK1):c.2626A>G (p.Thr876Ala)	PEAK1 (T876A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591371	NM_001385026.1(PEAK1):c.2570A>G (p.Lys857Arg)	PEAK1 (K857R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495328	NM_001385026.1(PEAK1):c.2555C>A (p.Thr852Asn)	PEAK1 (T852N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211265	NM_001385026.1(PEAK1):c.2494C>T (p.Pro832Ser)	PEAK1 (P832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532800	NM_001385026.1(PEAK1):c.2482G>A (p.Glu828Lys)	PEAK1 (E828K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211264	NM_001385026.1(PEAK1):c.2473C>T (p.Pro825Ser)	PEAK1 (P825S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211263	NM_001385026.1(PEAK1):c.2458C>T (p.Leu820Phe)	PEAK1 (L820F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379396	NM_001385026.1(PEAK1):c.2371T>C (p.Cys791Arg)	PEAK1 (C791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645590	NM_001385026.1(PEAK1):c.2348C>T (p.Thr783Ile)	PEAK1 (T783I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3054912	NM_001385026.1(PEAK1):c.2311G>A (p.Val771Met)	PEAK1 (V771M)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 2263957	NM_001385026.1(PEAK1):c.2245C>G (p.Gln749Glu)	PEAK1 (Q749E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466694	NM_001385026.1(PEAK1):c.2221C>T (p.Pro741Ser)	PEAK1 (P741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268863	NM_001385026.1(PEAK1):c.2130C>A (p.Asn710Lys)	PEAK1 (N710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031058	NM_001385026.1(PEAK1):c.1971C>G (p.Thr657=)	LOC130057657, PEAK1	Single nucleotide variant (synonymous variant)	PEAK1-related disorder	GLikely benign
Select item 2524240	NM_001385026.1(PEAK1):c.1958T>C (p.Val653Ala)	LOC130057657, PEAK1 (V653A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229110	NM_001385026.1(PEAK1):c.1950A>T (p.Glu650Asp)	LOC130057657, PEAK1 (E650D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354165	NM_001385026.1(PEAK1):c.1856G>A (p.Ser619Asn)	PEAK1 (S619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551693	NM_001385026.1(PEAK1):c.1841C>T (p.Pro614Leu)	PEAK1 (P614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313333	NM_001385026.1(PEAK1):c.1669C>T (p.Pro557Ser)	PEAK1 (P557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460586	NM_001385026.1(PEAK1):c.1625G>A (p.Arg542Gln)	PEAK1 (R542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620274	NM_001385026.1(PEAK1):c.1615A>G (p.Thr539Ala)	PEAK1 (T539A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493098	NM_001385026.1(PEAK1):c.1610C>T (p.Ser537Phe)	PEAK1 (S537F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403669	NM_001385026.1(PEAK1):c.1519T>C (p.Ser507Pro)	PEAK1 (S507P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211261	NM_001385026.1(PEAK1):c.1517A>T (p.Asn506Ile)	PEAK1 (N506I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308120	NM_001385026.1(PEAK1):c.1468G>A (p.Glu490Lys)	PEAK1 (E490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225049	NM_001385026.1(PEAK1):c.1391T>C (p.Val464Ala)	PEAK1 (V464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381446	NM_001385026.1(PEAK1):c.1348A>G (p.Ile450Val)	PEAK1 (I450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034699	NM_001385026.1(PEAK1):c.1318T>C (p.Ser440Pro)	PEAK1 (S440P)	Single nucleotide variant (missense variant)	PEAK1-related disorder	GLikely benign
Select item 2529040	NM_001385026.1(PEAK1):c.1229C>T (p.Pro410Leu)	PEAK1 (P410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609680	NM_001385026.1(PEAK1):c.1204G>A (p.Ala402Thr)	PEAK1 (A402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211259	NM_001385026.1(PEAK1):c.1175G>A (p.Ser392Asn)	PEAK1 (S392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552050	NM_001385026.1(PEAK1):c.1133A>G (p.Lys378Arg)	PEAK1 (K378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372156	NM_001385026.1(PEAK1):c.1107A>T (p.Leu369Phe)	PEAK1 (L369F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211258	NM_001385026.1(PEAK1):c.1096A>G (p.Asn366Asp)	PEAK1 (N366D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624295	NM_001385026.1(PEAK1):c.1088A>T (p.Lys363Met)	PEAK1 (K363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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