55735[Gene ID] - ClinVar

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Items: 97

	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 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 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 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 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 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 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 3084451	NM_018198.4(DNAJC11):c.1676G>A (p.Gly559Glu)	DNAJC11 (G559E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348174	NM_018198.4(DNAJC11):c.1661G>A (p.Arg554Lys)	DNAJC11 (R554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253002	NM_018198.4(DNAJC11):c.1604T>C (p.Leu535Pro)	DNAJC11 (L535P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356556	NM_018198.4(DNAJC11):c.1600G>A (p.Val534Ile)	DNAJC11 (V534I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713667	NM_018198.4(DNAJC11):c.1599C>T (p.Gly533=)	DNAJC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273064	NM_018198.4(DNAJC11):c.1582C>G (p.Leu528Val)	DNAJC11 (L528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084450	NM_018198.4(DNAJC11):c.1564G>A (p.Glu522Lys)	DNAJC11 (E522K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084449	NM_018198.4(DNAJC11):c.1511C>T (p.Thr504Met)	DNAJC11 (T504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774784	NM_018198.4(DNAJC11):c.1497G>A (p.Ser499=)	DNAJC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2343914	NM_018198.4(DNAJC11):c.1358T>C (p.Ile453Thr)	DNAJC11 (I453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565531	NM_018198.4(DNAJC11):c.1321G>A (p.Ala441Thr)	DNAJC11 (A441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254419	NM_018198.4(DNAJC11):c.1303A>C (p.Lys435Gln)	DNAJC11 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568842	NM_018198.4(DNAJC11):c.1282G>A (p.Ala428Thr)	DNAJC11 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084448	NM_018198.4(DNAJC11):c.1214G>A (p.Arg405His)	DNAJC11 (R405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084447	NM_018198.4(DNAJC11):c.1208T>G (p.Met403Arg)	DNAJC11 (M403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548601	NM_018198.4(DNAJC11):c.1207A>G (p.Met403Val)	DNAJC11 (M403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084446	NM_018198.4(DNAJC11):c.1180G>A (p.Val394Met)	DNAJC11 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402790	NM_018198.4(DNAJC11):c.1098-32dup	DNAJC11	Duplication (intron variant)	not specified	GBenign
Select item 2344375	NM_018198.4(DNAJC11):c.1081G>A (p.Val361Ile)	DNAJC11 (V361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084445	NM_018198.4(DNAJC11):c.1064T>C (p.Val355Ala)	DNAJC11 (V355A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609157	NM_018198.4(DNAJC11):c.1042G>A (p.Val348Ile)	DNAJC11 (V348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547841	NM_018198.4(DNAJC11):c.1033A>G (p.Arg345Gly)	DNAJC11 (R345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533926	NM_018198.4(DNAJC11):c.1025A>C (p.Lys342Thr)	DNAJC11 (K342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317542	NM_018198.4(DNAJC11):c.931C>G (p.Gln311Glu)	DNAJC11 (Q311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491433	NM_018198.4(DNAJC11):c.924C>G (p.Ile308Met)	DNAJC11 (I308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245114	NM_018198.4(DNAJC11):c.916G>A (p.Ala306Thr)	DNAJC11 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545556	NM_018198.4(DNAJC11):c.823G>A (p.Gly275Ser)	DNAJC11 (G275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084454	NM_018198.4(DNAJC11):c.757G>A (p.Gly253Ser)	DNAJC11 (G253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517668	NM_018198.4(DNAJC11):c.713C>T (p.Thr238Ile)	DNAJC11 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368009	NM_018198.4(DNAJC11):c.686G>A (p.Arg229His)	DNAJC11 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2295884	NM_018198.4(DNAJC11):c.593C>T (p.Ala198Val)	DNAJC11 (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084453	NM_018198.4(DNAJC11):c.554C>T (p.Ser185Leu)	DNAJC11 (S185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388684	NM_018198.4(DNAJC11):c.425A>G (p.Tyr142Cys)	DNAJC11 (Y142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149833	GRCh38/hg38 1p36.31(chr1:6674118-6916542)x3	CAMTA1, CAMTA1-DT +7 more	Copy number gain	See cases	GLikely benign
Select item 2328985	NM_018198.4(DNAJC11):c.221C>A (p.Thr74Asn)	DNAJC11 (T74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286435	NM_018198.4(DNAJC11):c.164C>T (p.Ala55Val)	DNAJC11 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482606	NM_018198.4(DNAJC11):c.28C>G (p.Leu10Val)	DNAJC11, LOC129929265 (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063055	GRCh37/hg19 1p36.31(chr1:6727645-6854433)x1	CAMTA1, DNAJC11	Copy number loss	not specified	GPathogenic
Select item 2685794	GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	PLEKHG5, TNFRSF25 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1526428	GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	ACOT7, CAMTA1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442023	GRCh37/hg19 1p36.31-36.23(chr1:6699803-7248658)x3	CAMTA1, DNAJC11	Copy number gain	See cases	GUncertain significance
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACTRT2, AJAP1 +35 more	Copy number gain	See cases	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 97